MASTRANGELO, Mario

MASTRANGELO, Mario  

DIPARTIMENTO DI NEUROSCIENZE UMANE  

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Titolo Data di pubblicazione Autore(i) File
A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies 2012 Mastrangelo, Mario; Andrea, Celato; Leuzzi, Vincenzo
A new form of cerebral folate deficiency with severe self-injurious behaviour 2012 Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 2020 Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia 2016 Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B.
Actual insights into the clinical management of febrile seizures 2014 Mastrangelo, Mario; Midulla, Fabio; Moretti, Corrado
Actual insights into treatable inborn errors of metabolism causing epilepsy 2018 Mastrangelo, Mario
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study 2017 Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; LA PENNA, Francesco; Ferro, VALENTINA ANNAROSA; Calistri, Lucia; Bondone, Claudia; Midulla, Fabio; Suppiej, Agnese; Falsaperla, Raffaele; Cordelli, Duccio Maria; Palmieri, Antonella; Verrotti, Alberto; Becciani, Sabrina; Aguzzi, Sonia; Mastrangelo, Mario; Pelizza, Federica; Greco, Filippo; Carbonari, Giulia; Tallone, Ramona; Bottone, Gabriella; Trenta, Italo; Masi, Stefano; Villa, MARIA PIA; Reale, Antonino
Acute ischemic stroke in childhood: a comprehensive review 2021 Mastrangelo, M.; Giordo, L.; Ricciardi, G.; De Michele, M.; Toni, D.; Leuzzi, V.
ADEM E SCLEROSI MULTIPLA: QUALI SONO I CONFINI?” 2005 Alberto, Spalice; Mastrangelo, Mario; SARA DI, Netta; Giovanni, Luca; Ciambra, ; Paolo, Balestri; Paola, Iannetti
ANIDROSI E IPERTERMIA IN BAMBINO IN TRATTAMENTO CON TOPIRAMATO 2004 SARA DI NETTA, ; Ciambra, GIOVANNI L. U. C. A.; Mastrangelo, Mario; VALENTINA LO FARO, ; Properzi, Enrico; Paola, Iannetti
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency 2018 Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry 2021 Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 2011 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola
BILATERAL (OPERCULAR AND PARACENTRAL LOBULAR) POLYMICROGYRIA AND NEUROFIBROMATOSIS TYPE 1 In corso di stampa Martino, Ruggieri; Mastrangelo, Mario; Spalice, Alberto; Rosanna, Mariani; Bottillo, Irene; Isabella, Torrente; CLAUDIO DI BIASI, ; Paola, Iannetti
Bilateral perysilvian polymicrogyria in Chiari I malformation 2006 Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; F., DE LUCA; A., Verrotti; Iannetti, Paola
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) 2017 Di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis 2019 Mastrangelo, M.; Alfonsi, C.; Screpanti, I.; Masuelli, L.; Tavazzi, B.; Mei, D.; Giannotti, F.; Guerrini, R.; Leuzzi, V.
Clinical approach to neurodegenerative disorders in childhood: an updated overview. 2019 Mastrangelo, Mario
Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (nf1) and bilateral (opercular and paracentral) polymicrogyria 2009 Mastrangelo, Mario; Mariani, Rosanna; Spalice, Alberto; Ruggieri, Martino; Iannetti, Paola
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins 2021 Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; de Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M.